Dystonia - childhood onset

Gene: COX10

Green List (high evidence)

COX10 (COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000006695
EnsemblGeneIds (GRCh37): ENSG00000006695
OMIM: 602125, Gene2Phenotype
COX10 is in 19 panels

0 reviews

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: COX10 were changed from to Leigh syndrome due to mitochondrial COX4 deficiency, 256000; Mitochondrial complex IV deficiency, 220110

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications

Eleanor Williams (Genomics England Curator)

gene: COX10 was added gene: COX10 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX10 were set to 10767350